C2CD3_HUMAN
ID C2CD3_HUMAN Reviewed; 2353 AA.
AC Q4AC94; C9JR55; E2QRD1; Q2NLE1; Q3C1U9; Q6ZU92; Q8IYM4; Q8NB87; Q8NDH7;
AC Q9Y4M2;
DT 13-NOV-2007, integrated into UniProtKB/Swiss-Prot.
DT 30-NOV-2010, sequence version 4.
DT 03-AUG-2022, entry version 127.
DE RecName: Full=C2 domain-containing protein 3;
GN Name=C2CD3;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT GLN-1219.
RA Totoki Y., Yada T., Sakaki Y., Takeda T.;
RT "Identification of novel human genes predicted by combining multiple gene-
RT finders.";
RL Submitted (AUG-2005) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16554811; DOI=10.1038/nature04632;
RA Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
RA Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T.,
RA Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G.,
RA Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C.,
RA Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A.,
RA Hattori M., Rogers J., Lander E.S., Sakaki Y.;
RT "Human chromosome 11 DNA sequence and analysis including novel gene
RT identification.";
RL Nature 440:497-500(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 705-2352 (ISOFORM 1), NUCLEOTIDE
RP SEQUENCE [LARGE SCALE MRNA] OF 1067-2352 (ISOFORM 2), AND VARIANT GLN-1219.
RC TISSUE=Brain, and Testis;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 716-2353 (ISOFORM 1), NUCLEOTIDE
RP SEQUENCE [LARGE SCALE MRNA] OF 1245-2353 (ISOFORM 4), AND VARIANT GLN-997.
RC TISSUE=Eye;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1193-2353 (ISOFORM 3), NUCLEOTIDE
RP SEQUENCE [LARGE SCALE MRNA] OF 1999-2353 (ISOFORM 5), AND VARIANT GLN-1219.
RC TISSUE=Testis;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [6]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-2114, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18220336; DOI=10.1021/pr0705441;
RA Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III;
RT "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient
RT phosphoproteomic analysis.";
RL J. Proteome Res. 7:1346-1351(2008).
RN [7]
RP FUNCTION, AND SUBCELLULAR LOCATION.
RX PubMed=23769972; DOI=10.1016/j.devcel.2013.05.016;
RA Balestra F.R., Strnad P., Fluckiger I., Gonczy P.;
RT "Discovering regulators of centriole biogenesis through siRNA-based
RT functional genomics in human cells.";
RL Dev. Cell 25:555-571(2013).
RN [8]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-728; SER-1891; SER-2114 AND
RP SER-2132, AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma, and Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [9]
RP INVOLVEMENT IN OFD14, VARIANT OFD14 GLY-1029, FUNCTION, SUBCELLULAR
RP LOCATION, AND INTERACTION WITH OFD1.
RX PubMed=24997988; DOI=10.1038/ng.3031;
RA Thauvin-Robinet C., Lee J.S., Lopez E., Herranz-Perez V., Shida T.,
RA Franco B., Jego L., Ye F., Pasquier L., Loget P., Gigot N., Aral B.,
RA Lopes C.A., St-Onge J., Bruel A.L., Thevenon J., Gonzalez-Granero S.,
RA Alby C., Munnich A., Vekemans M., Huet F., Fry A.M., Saunier S.,
RA Riviere J.B., Attie-Bitach T., Garcia-Verdugo J.M., Faivre L.,
RA Megarbane A., Nachury M.V.;
RT "The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator
RT of centriole elongation.";
RL Nat. Genet. 46:905-911(2014).
RN [10]
RP VARIANT CYS-1743.
RX PubMed=26477546; DOI=10.1016/j.ajhg.2015.09.009;
RG Care4Rare Canada Consortium;
RA Srour M., Hamdan F.F., McKnight D., Davis E., Mandel H.,
RA Schwartzentruber J., Martin B., Patry L., Nassif C., Dionne-Laporte A.,
RA Ospina L.H., Lemyre E., Massicotte C., Laframboise R., Maranda B.,
RA Labuda D., Decarie J.C., Rypens F., Goldsher D., Fallet-Bianco C.,
RA Soucy J.F., Laberge A.M., Maftei C., Boycott K., Brais B., Boucher R.M.,
RA Rouleau G.A., Katsanis N., Majewski J., Elpeleg O., Kukolich M.K.,
RA Shalev S., Michaud J.L.;
RT "Joubert Syndrome in French Canadians and Identification of Mutations in
RT CEP104.";
RL Am. J. Hum. Genet. 97:744-753(2015).
CC -!- FUNCTION: Component of the centrioles that acts as a positive regulator
CC of centriole elongation (PubMed:24997988). Promotes assembly of
CC centriolar distal appendage, a structure at the distal end of the
CC mother centriole that acts as an anchor of the cilium, and is required
CC for recruitment of centriolar distal appendages proteins CEP83, SCLT1,
CC CEP89, FBF1 and CEP164. Not required for centriolar satellite integrity
CC or RAB8 activation. Required for primary cilium formation
CC (PubMed:23769972). Required for sonic hedgehog/SHH signaling and for
CC proteolytic processing of GLI3. {ECO:0000269|PubMed:23769972,
CC ECO:0000269|PubMed:24997988}.
CC -!- SUBUNIT: Interacts with IFT88, BBS4 and PCM1 (By similarity). Interacts
CC with OFD1; OFD1 may act as a negative regulator of C2CD3. Associates
CC with the BBSome complex. {ECO:0000250, ECO:0000269|PubMed:24997988}.
CC -!- INTERACTION:
CC Q4AC94; O75665: OFD1; NbExp=3; IntAct=EBI-10897521, EBI-716327;
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium basal body
CC {ECO:0000250}. Cytoplasm, cytoskeleton, microtubule organizing center,
CC centrosome, centriole {ECO:0000269|PubMed:23769972,
CC ECO:0000269|PubMed:24997988}. Note=Localizes to centrioles and
CC procentrioles both in interphase and mitosis. Localizes to centriolar
CC satellites, localization is dependent on PCM1 and dynein-mediated
CC retrograde transport. Also localizes to the distal ends of the mother
CC and daughter centrioles.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=5;
CC Name=5;
CC IsoId=Q4AC94-5; Sequence=Displayed;
CC Name=1;
CC IsoId=Q4AC94-1; Sequence=VSP_034677, VSP_034678;
CC Name=2;
CC IsoId=Q4AC94-2; Sequence=VSP_029444, VSP_029445, VSP_029447;
CC Name=3;
CC IsoId=Q4AC94-3; Sequence=VSP_029448, VSP_034679;
CC Name=4;
CC IsoId=Q4AC94-4; Sequence=VSP_029446, VSP_034676;
CC -!- DISEASE: Orofaciodigital syndrome 14 (OFD14) [MIM:615948]: A form of
CC orofaciodigital syndrome, a group of heterogeneous disorders
CC characterized by malformations of the oral cavity, face and digits, and
CC associated phenotypic abnormalities that lead to the delineation of
CC various subtypes. OFD14 patients show severe microcephaly, cerebral
CC malformations the molar tooth sign, and intellectual disability in
CC addition to canonical OFDS features. {ECO:0000269|PubMed:24997988}.
CC Note=The disease is caused by variants affecting the gene represented
CC in this entry.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC03654.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAC86334.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AB231763; BAE46898.1; -; mRNA.
DR EMBL; AB231764; BAE17137.1; -; mRNA.
DR EMBL; AP000577; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AP002392; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AP003717; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AK091397; BAC03654.1; ALT_INIT; mRNA.
DR EMBL; AK125894; BAC86334.1; ALT_INIT; mRNA.
DR EMBL; BC035599; AAH35599.1; -; mRNA.
DR EMBL; BC110508; AAI10509.1; -; mRNA.
DR EMBL; AL080220; CAB45779.1; -; mRNA.
DR EMBL; AL833903; CAD38759.1; -; mRNA.
DR CCDS; CCDS31636.1; -. [Q4AC94-1]
DR CCDS; CCDS66167.1; -. [Q4AC94-5]
DR PIR; T12555; T12555.
DR RefSeq; NP_001273506.1; NM_001286577.1. [Q4AC94-5]
DR RefSeq; NP_056346.3; NM_015531.5. [Q4AC94-1]
DR AlphaFoldDB; Q4AC94; -.
DR BioGRID; 117480; 30.
DR IntAct; Q4AC94; 25.
DR MINT; Q4AC94; -.
DR STRING; 9606.ENSP00000334379; -.
DR iPTMnet; Q4AC94; -.
DR PhosphoSitePlus; Q4AC94; -.
DR BioMuta; C2CD3; -.
DR DMDM; 313104297; -.
DR EPD; Q4AC94; -.
DR jPOST; Q4AC94; -.
DR MassIVE; Q4AC94; -.
DR MaxQB; Q4AC94; -.
DR PaxDb; Q4AC94; -.
DR PeptideAtlas; Q4AC94; -.
DR PRIDE; Q4AC94; -.
DR ProteomicsDB; 62084; -. [Q4AC94-5]
DR ProteomicsDB; 62085; -. [Q4AC94-1]
DR ProteomicsDB; 62086; -. [Q4AC94-2]
DR ProteomicsDB; 62087; -. [Q4AC94-3]
DR ProteomicsDB; 62088; -. [Q4AC94-4]
DR Antibodypedia; 48039; 147 antibodies from 19 providers.
DR DNASU; 26005; -.
DR Ensembl; ENST00000313663.11; ENSP00000323339.7; ENSG00000168014.18. [Q4AC94-1]
DR Ensembl; ENST00000334126.12; ENSP00000334379.7; ENSG00000168014.18. [Q4AC94-5]
DR Ensembl; ENST00000442398.7; ENSP00000404577.3; ENSG00000168014.18. [Q4AC94-4]
DR GeneID; 26005; -.
DR KEGG; hsa:26005; -.
DR MANE-Select; ENST00000334126.12; ENSP00000334379.7; NM_001286577.2; NP_001273506.1.
DR UCSC; uc001ouu.4; human. [Q4AC94-5]
DR CTD; 26005; -.
DR DisGeNET; 26005; -.
DR GeneCards; C2CD3; -.
DR GeneReviews; C2CD3; -.
DR HGNC; HGNC:24564; C2CD3.
DR HPA; ENSG00000168014; Low tissue specificity.
DR MalaCards; C2CD3; -.
DR MIM; 615944; gene.
DR MIM; 615948; phenotype.
DR neXtProt; NX_Q4AC94; -.
DR OpenTargets; ENSG00000168014; -.
DR Orphanet; 434179; Orofaciodigital syndrome type 14.
DR PharmGKB; PA162379082; -.
DR VEuPathDB; HostDB:ENSG00000168014; -.
DR eggNOG; ENOG502QRQ8; Eukaryota.
DR GeneTree; ENSGT00510000048072; -.
DR HOGENOM; CLU_000804_0_0_1; -.
DR InParanoid; Q4AC94; -.
DR OMA; XLSKELL; -.
DR OrthoDB; 88005at2759; -.
DR PhylomeDB; Q4AC94; -.
DR TreeFam; TF323591; -.
DR PathwayCommons; Q4AC94; -.
DR Reactome; R-HSA-5620912; Anchoring of the basal body to the plasma membrane.
DR SignaLink; Q4AC94; -.
DR BioGRID-ORCS; 26005; 14 hits in 1075 CRISPR screens.
DR ChiTaRS; C2CD3; human.
DR GenomeRNAi; 26005; -.
DR Pharos; Q4AC94; Tbio.
DR PRO; PR:Q4AC94; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q4AC94; protein.
DR Bgee; ENSG00000168014; Expressed in sural nerve and 193 other tissues.
DR ExpressionAtlas; Q4AC94; baseline and differential.
DR Genevisible; Q4AC94; HS.
DR GO; GO:0034451; C:centriolar satellite; IDA:UniProtKB.
DR GO; GO:0005814; C:centriole; IDA:UniProtKB.
DR GO; GO:0005813; C:centrosome; IDA:UniProtKB.
DR GO; GO:0036064; C:ciliary basal body; IEA:Ensembl.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0007420; P:brain development; IEA:Ensembl.
DR GO; GO:0061511; P:centriole elongation; IDA:UniProtKB.
DR GO; GO:0060271; P:cilium assembly; IBA:GO_Central.
DR GO; GO:0042733; P:embryonic digit morphogenesis; IEA:Ensembl.
DR GO; GO:0001947; P:heart looping; IEA:Ensembl.
DR GO; GO:0001701; P:in utero embryonic development; IEA:Ensembl.
DR GO; GO:0021997; P:neural plate axis specification; IEA:Ensembl.
DR GO; GO:0021915; P:neural tube development; IEA:Ensembl.
DR GO; GO:1905515; P:non-motile cilium assembly; IMP:UniProtKB.
DR GO; GO:0071539; P:protein localization to centrosome; IDA:UniProtKB.
DR GO; GO:0016485; P:protein processing; IEA:Ensembl.
DR GO; GO:0030162; P:regulation of proteolysis; IEA:Ensembl.
DR GO; GO:0008589; P:regulation of smoothened signaling pathway; IEA:Ensembl.
DR CDD; cd08683; C2_C2cd3; 1.
DR Gene3D; 2.60.40.150; -; 1.
DR InterPro; IPR037775; C2_C2CD3.
DR InterPro; IPR000008; C2_dom.
DR InterPro; IPR035892; C2_domain_sf.
DR Pfam; PF00168; C2; 3.
DR SMART; SM00239; C2; 5.
DR SUPFAM; SSF49562; SSF49562; 3.
DR PROSITE; PS50004; C2; 6.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell projection; Ciliopathy;
KW Cilium biogenesis/degradation; Cytoplasm; Cytoskeleton; Disease variant;
KW Intellectual disability; Phosphoprotein; Reference proteome; Repeat.
FT CHAIN 1..2353
FT /note="C2 domain-containing protein 3"
FT /id="PRO_0000311239"
FT DOMAIN 521..678
FT /note="C2 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT DOMAIN 787..919
FT /note="C2 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT DOMAIN 985..1147
FT /note="C2 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT DOMAIN 1171..1339
FT /note="C2 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT DOMAIN 1403..1533
FT /note="C2 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT DOMAIN 1617..1745
FT /note="C2 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT REGION 1..27
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 488..508
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 549..568
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1569..1591
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1822..1846
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1972..2032
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2084..2118
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2130..2269
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2301..2334
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1569..1588
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1822..1836
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1972..1993
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2084..2101
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2172..2202
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2250..2269
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 466
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q52KB6"
FT MOD_RES 728
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 1891
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 2114
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18220336,
FT ECO:0007744|PubMed:23186163"
FT MOD_RES 2132
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VAR_SEQ 1364..1382
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_029444"
FT VAR_SEQ 1881..1908
FT /note="SILTSLRKNLSELDQIQRYFRQKLTKPF -> PEAWRRGDCLMWYRGSWRAS
FT GFGKKKT (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_029445"
FT VAR_SEQ 1888..1921
FT /note="KNLSELDQIQRYFRQKLTKPFLPLSPQTQTAISQ -> SSPSLSYPSALRLK
FT RPSHSTRRAVGTILGQVPAA (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_029446"
FT VAR_SEQ 1909..2353
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_029447"
FT VAR_SEQ 1922..2353
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_034676"
FT VAR_SEQ 1961..1968
FT /note="DLQTITRD -> LPAPNDS (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_029448"
FT VAR_SEQ 1961..1963
FT /note="DLQ -> GSY (in isoform 1)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334, ECO:0000303|Ref.1"
FT /id="VSP_034677"
FT VAR_SEQ 1964..2353
FT /note="Missing (in isoform 1)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334, ECO:0000303|Ref.1"
FT /id="VSP_034678"
FT VAR_SEQ 1969..2353
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_034679"
FT VARIANT 773
FT /note="P -> R (in dbSNP:rs34050666)"
FT /id="VAR_037181"
FT VARIANT 997
FT /note="R -> Q (in dbSNP:rs11235995)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_037182"
FT VARIANT 1029
FT /note="C -> G (in OFD14; dbSNP:rs587777654)"
FT /evidence="ECO:0000269|PubMed:24997988"
FT /id="VAR_071196"
FT VARIANT 1219
FT /note="R -> Q (in dbSNP:rs826058)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:17974005, ECO:0000269|Ref.1"
FT /id="VAR_037183"
FT VARIANT 1297
FT /note="Y -> C (in dbSNP:rs1095423)"
FT /id="VAR_037184"
FT VARIANT 1663
FT /note="S -> N (in dbSNP:rs12419308)"
FT /id="VAR_037185"
FT VARIANT 1743
FT /note="G -> C (in dbSNP:rs1064793399)"
FT /evidence="ECO:0000269|PubMed:26477546"
FT /id="VAR_075697"
FT VARIANT 1831
FT /note="G -> W (in dbSNP:rs1632245)"
FT /id="VAR_037186"
FT VARIANT 1832
FT /note="R -> G (in dbSNP:rs1632242)"
FT /id="VAR_037187"
FT CONFLICT 143
FT /note="I -> T (in Ref. 1; BAE17137)"
FT /evidence="ECO:0000305"
FT CONFLICT 740
FT /note="M -> V (in Ref. 1; BAE17137)"
FT /evidence="ECO:0000305"
FT CONFLICT 846
FT /note="V -> A (in Ref. 4; AAI10509)"
FT /evidence="ECO:0000305"
FT CONFLICT 1141
FT /note="T -> A (in Ref. 1; BAE17137)"
FT /evidence="ECO:0000305"
FT CONFLICT 1351
FT /note="H -> R (in Ref. 1; BAE17137)"
FT /evidence="ECO:0000305"
FT CONFLICT 1417
FT /note="P -> S (in Ref. 1; BAE17137)"
FT /evidence="ECO:0000305"
FT CONFLICT 1625
FT /note="Q -> R (in Ref. 1; BAC86334)"
FT /evidence="ECO:0000305"
FT CONFLICT 1777
FT /note="A -> E (in Ref. 1; BAC86334)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 2353 AA; 260389 MW; D559291AEB1B0DA1 CRC64;
MKQRKGQGSG GSRGRKKRGL SDISPSTSLP PLVEGQLRCF LKLTVNRVIW KIAKPPTCVL
VRVRWWGETS DGTLFCPRDA LQTEPKAVRT TTRYAIRCGP KQFTSYLTDM AVLVLEVITK
LDGLPIGRVQ INGLAQLSPT HQINGFFTIV SSTSKKLGEL QVSLALEPLS ETYDSYHPLP
TTDMTENVLL SKQGFRENTE PSSTQFQVPS RPRDIHTIKI DGKELAANSS RSTTPRGKDH
VCFAENPDTI KDSSFGLQHS LNSGQSLESV TLKGRAPRKQ MSLLNSSEFQ PQIRTVAKSH
SDSCILSSNN LPTKDLLSAL LEQGNKLRNA MVISAMKSSP ETSMLLDQVH PPINEDSLRA
STQIRAFSRN RFKDHIEDHL LPSTENTFWR HDTKADTRAI QLLLGSAELS QGNFWDGLGS
PPDSPSPGSD VYCISELNDP QYDQSLLENL FYTAPKSDTS ISDFLSEEDD IVPSKKISQS
TALARSSKVL ESSDHKLKKR SAGKRNRNLV EQQMLSETPE DAQTMTLSVD RLALLGRTHS
VRIIIETMGV PPDSPQMTPG KKSYAGPPPK VTTAKKRTFF VEYHFPVGFS ESGLGKTALI
TEVVRLASSK ITDGKVKFQQ RFVFPVQFGG PMIEHWWNSN LTFQIYVKKT PQKKPEVIGS
VSLSLRAVIQ SELLSFSDQL PVQQENGQSP FGPLKVTMEL ITDNKDFTGI NTKLSGNTHY
TPLCAPTSPN KALPELNQDM TCTKNPQNLN QIHEETAKKA QNLVLPNRKS PSPVAPHPST
FVATPASHNL VNQTNGTTKE SALLLHVLLM VPDGKDFISG ESEKQSPCNV YLNCKLFSTE
EVTRSVIAWG TTQPVFNFSQ VIPVSLSSKY LERLKNNVMV IETWNKVRSP GQDKLLGLVK
LPLHQFYMSF KDAKISRLLL DAQYPVVAVD SYMPVIDVFS GHQNGSLRVF LAMGSSNQIM
ALQRLKNEEG TLPPFSPRPA HFLDQPTAAS VAMAEDRGNG LMEHCFEIHI EMVKGLAPLQ
ATVWGEADCY VQYYFPVQHS QSSVLKGPEF LENGITLKPF RTATTLCVPD PIFNSEHHHS
LLLPAEVPVQ RLLLSAFSAQ GLVPGGGVQF EIWCRYYYPN VRDQKVAKGT LPLSRICAMV
TTQHREDVGI QTFNLPLTPR IENRKELRNQ SSGLLDVGLR YRRSPRTAEG VLAARTVSIS
VQIIRACGLQ AAAKALAERE PALQFSATVG VNASVTTHLS FLPQGEQRRT HPVACSFCPE
FSHHVEFTCN LVTQHCSGEA CFLAELLEFA EVIFAVYHEN TKSASDIISI ESCKEYLLGV
VKVPTKELLI KRSGITGWYP IILPEDGGLP HGLELMQKIV GGLELSISFT HRGDRERVLE
AAEHLGWSFE NSLKDFVRMD EGEPATVTIS TPRLWLPIHC VLLAGHNHIH KNTYCYLRYK
FYDHEAFWTP LKKPKESVNK KQIMVTFKAS KRAEVTRGPS LLWYFREERL EIQVWRAYGN
DSVERPHQTD SWIGSAYVDL ARLGERSART LTVSGVYPLF GRNASNLSGA ALRVHVVLSS
LSSHLEPTHE LDSMDCSSHS ESEQLPRRND EVQLSPPEVI SCHQKSPAST QVPCSSTTAE
VRLTQEGPAD LDGTFAVSIL VERAMHLSLK GSPLTERKVS IPSCCVSFAT ADESSPVYTQ
VVENTDSPIW NFQQQSRLSK ELLLDPQQTL VFKVWHKGDE ERVIGFASVD LSPLLSGFQF
VCGWYNITDF SGECQGQIKV AVSPLESLIH FKEERQARRG VETSKSLIPI YSPFSFPASD
TYAAFSSHMA RQTLDQLAHA SSKELDFSSP GRSDTTRSQA SRHEEHVQNI RRFHESLHLQ
GEAPLPCDDK LTTSPLSSQT SILTSLRKNL SELDQIQRYF RQKLTKPFLP LSPQTQTAIS
QHQESCRDHL GPGASSLDPG SQCILEKSSN LVLQVSSLIT DLQTITRDSQ AALSSHRARS
RSNKATTLPD AQDTEALQER CTMPDEPLVR APDKGTDSPS PPPLEETSNG GRMLHESLRH
AVPITRMQSS EDTEAGPAYS DEDYEEDIIE PRTLNEITTV TDKTSPWSSV ISDTSEVISP
QPDEVQREGP SCPSPGPFCR EELMVKSSFL SSPERAVNPH LPRQGSPSQS LVACECEASK
ARVGGESASA NPQPIPCPTL SGAQQSSTFV GWSSPQTDQN KEPKSEAPAE NEAATSELGD
SADSFKKLPL NLASQSRREN HKGPPIDSSD IRQRQVTTGS ETSTKQSLLL PGPIVVPNFF
LPPQQLEASL RMLSLSATLP PAATTDQDKS EATRGALSQR PCRPRPNSLP LNLPEEETLR
IARIFSSQYS QKD
